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- source_evidence_literature type ECO_0000212 NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_assertion description "[Mutations in JAG1 were detected in three patients with Alagille syndrome (1.3%), while NKX2.5 mutations were seen in two patients with non-syndromic ToF (0.9%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_assertion evidence source_evidence_literature NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_assertion SIO_000772 19948535 NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_assertion wasDerivedFrom befree-20150227 NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_assertion wasGeneratedBy ECO_0000203 NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP334051.RANeSjanmEIX27b3pO8qcH-sKCrpG38iLKYS6eW0gmOWw130_provenance.